A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467251



Internal ID245070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117821051..117878584hg38UCSC Ensembl
chr5:117156746..117214279hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3857534
hg1957534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv407n206
Supporting Variantsnssv16972806
Samples
Known GenesLOC102467224
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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